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Single nucleotide polymorphism associated with stroke susceptibility

a single nucleotide polymorphism and susceptibility technology, applied in the field of single nucleotide polymorphism associated with stroke susceptibility, can solve the problems of precise functional variants of the pde4d gene conferring and the risk of ischemic stroke has not been identified

Inactive Publication Date: 2007-05-03
KITTNER STEVEN J +6
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

The present invention provides methods for identifying individuals at risk for stroke based on the detection of a specific gene, PDE4D, and its associated variants. The invention also provides genetic markers that can be used to screen for stroke susceptibility. The identification of these markers can help to better understand the genetic basis of stroke and provide more effective treatments and preventive measures.

Problems solved by technology

The gene encoding phosphodiesterase 4D confers risk of ischemic stroke.
Unfortunately, despite the extensive research in this area, the precise functional variants of the PDE4D gene conferring the risk of ischemic stroke have not been identified.
The significant discrepancies in the reports to date and the genetic complexity of PDE4D expression have led to uncertainty.

Method used

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  • Single nucleotide polymorphism associated with stroke susceptibility
  • Single nucleotide polymorphism associated with stroke susceptibility
  • Single nucleotide polymorphism associated with stroke susceptibility

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Embodiment Construction

[0034] Reference will now be made in detail to the presently preferred embodiments of the invention, examples of which are illustrated in the accompanying drawings.

[0035] The present invention identifies and provides a novel allele (“risk allele” ) within the PDE4D gene that is associated with stroke. In a preferred embodiment, the risk allele is a single nucleotide polymorphism (SNP), within the PDE4D gene that is associated with stroke. As previously described, the association of the risk allele with stroke may be shown through various methods, for example, a statistical regression analysis model may be employed wherein an odds ratio (OR) value is equal to or greater than one (1) and a probability factor (p) is equal to or less than 0.05. The risk allele is useful as a genetic marker, wherein the expression within a subject provides an indication of the subject's susceptibility to stroke. In a more particularly preferred embodiment, the current invention includes a novel risk all...

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Abstract

The present invention identifies various risk alleles, particularly a risk allele of SNP rs918592, within the PDE4D gene as novel stroke associated risk markers. These markers may be used for identifying a subject's susceptibility to stroke and diagnosing a subject's susceptibility to a particular type of stroke based on the presence of the risk allele. The markers are found in the human population, particularly the human female population, across different ethnicities. The marker further reveals an environmental impact on a subject's susceptibility to stroke, showing a dose dependent relationship.

Description

CROSS REFERENCE TO RELATED APPLICATION [0001] The present application claims priority under 35 U.S.C. §119 to the U.S. Provisional Application Ser. No. 60 / 731,402, filed on Oct. 28, 2005, and U.S. Provisional Application Ser. No. 60 / 733,334, filed on Nov. 3, 2005. U.S. Provisional Applications 60 / 731,402 and 60 / 733,334 are herein incorporated by reference in their entireties.ACKNOWLEDGEMENT OF GOVERNMENT LICENSE RIGHTS [0002] The U.S. Government has a paid-up license in this invention and the right in limited circumstances to require the patent owner to license others on reasonable terms as provided for by the terms of Grant No. P60 12583 awarded by the National Institute on Aging Pepper Center. This work was also supported, in whole or in part, by funding from the Department of Veterans Affairs, Veterans Administration Medical Center, Baltimore. Additionally, support for the research disclosed herein was provided by the Maryland Cigarette Restitution Fund Program, University of Mar...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156C12Q2600/112C12Q2600/172
Inventor KITTNER, STEVEN J.SONG, QINGMITCHELL, BRAXTON D.O'CONNELL, JEFFREY R.COLE, JOHN W.STINE, O. COLINGIBBONS, GARY H.
Owner KITTNER STEVEN J
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